Screening for Fabry Disease in Patients with Left Ventricular Hypertrophy in China: A Multicentre and Prospective Study

This pioneering screening study for FD among Chinese patients with unexplained LVH using DBS measurement, revealed an FD detection rate of 0.88%. Our findings confirmed that the combined measurement of lyso-Gb3 and α-Gal A activity is beneficial for primary screening of FD in patients with LVH. Given the availability of efficacious therapies and the value of cascade screening in extended families, early detection of FD in LVH patients is clinically important.

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Publication Details

Journal
ESC Heart Failure
Published
2024-09-03
DOI
https://doi.org/10.1002/ehf2.15065
Citations
6
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
1.96

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article

Screening for Fabry Disease in Patients with Left Ventricular Hypertrophy in China: A Multicentre and Prospective Study

Xiaoping Ji, Miao Dong-xia, Huixia Lu, Huanyi Zhang et al.
6 citations
ESC Heart Failure
Lysosomal Storage Disorders Research
1.96
article

Screening for Fabry Disease in Patients with Left Ventricular Hypertrophy in China: A Multicentre and Prospective Study

Xiaoping Ji, Miao Dong-xia, Huixia Lu, Huanyi Zhang, Yan Liu, Xinyu Zhang, Peng Li, Guihua Jiang, Zongwei Lin, Hongyan Dai, Fenglei Zhang, Dongxia Zhang, Zhong Lin, Tao Zhang
article en
6 citations

Abstract

This pioneering screening study for FD among Chinese patients with unexplained LVH using DBS measurement, revealed an FD detection rate of 0.88%. Our findings confirmed that the combined measurement of lyso-Gb3 and α-Gal A activity is beneficial for primary screening of FD in patients with LVH. Given the availability of efficacious therapies and the value of cascade screening in extended families, early detection of FD in LVH patients is clinically important.

ESC Heart FailureVol. 11(6)
Qingdao University (CN), Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Wenzhou Medical University (CN), Yuhuangding Hospital (CN), Boxing People's Hospital (CN), Qingdao Municipal Hospital (CN), Xintai People's Hospital (CN), Ministry of Education (BD), Taian City Central Hospital (CN), Dongyang People's Hospital (CN)
Shandong University
Openalex Percentile: Top 13%
Lysosomal Storage Disorders Research
1.96
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Screening for Fabry Disease in Patients with Left Ventricular Hypertrophy in China: A Multicentre and Prospective Study — Xiaoping Ji, Miao Dong-xia, et al. · ESC Heart Failure (2024) | TGRS Research Map | TGRS